{ "url": "https://dantelabs.com/pl/genes/kcnq1", "gene": { "slug": "kcnq1", "symbol": "KCNQ1", "name": "potassium voltage-gated channel subfamily Q member 1", "hgnc": "HGNC:6294", "summary": null, "location": "11p15.5-p15.4", "locusType": "gene with protein product", "aliases": [ "Kv7.1", "KCNA8", "KVLQT1", "JLNS1", "LQT1" ], "previousSymbols": [ "LQT", "KCNA9" ], "ensemblId": "ENSG00000053918", "entrezId": 3784, "omim": [ "607542" ], "uniprot": [ "P51787" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 2445008, "end": 2849105, "strand": "+", "ensemblTranscript": "ENST00000155840.12", "refseqTranscript": "NM_000218.3", "ensemblProtein": "ENSP00000155840.2", "refseqProtein": "NP_000209.2", "exons": [ { "start": 2445008, "end": 2445484 }, { "start": 2527928, "end": 2528018 }, { "start": 2570628, "end": 2570754 }, { "start": 2571325, "end": 2571403 }, { "start": 2572013, "end": 2572109 }, { "start": 2572846, "end": 2572986 }, { "start": 2583435, "end": 2583545 }, { "start": 2585212, "end": 2585307 }, { "start": 2587570, "end": 2587692 }, { "start": 2588713, "end": 2588854 }, { "start": 2661961, "end": 2662081 }, { "start": 2768844, "end": 2768919 }, { "start": 2775960, "end": 2776054 }, { "start": 2776986, "end": 2777032 }, { "start": 2777976, "end": 2778037 }, { "start": 2847767, "end": 2849105 } ], "cds": { "start": 2445099, "end": 2848003 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 2465914, "end": 2870339, "strand": "+" }, "neighbourhood": { "release": "116", "start": 2040910, "end": 3253203, "genes": [ { "symbol": "IGF2", "ensemblId": "ENSG00000167244", "biotype": "protein_coding", "start": 2129112, "end": 2158596, "strand": "-", "slug": "igf2" }, { "symbol": "", "ensemblId": "ENSG00000284779", "biotype": "protein_coding", "start": 2129112, "end": 2149603, "strand": "-" }, { "symbol": "INS-IGF2", "ensemblId": "ENSG00000129965", "biotype": "protein_coding", "start": 2132538, "end": 2161209, "strand": "-", "slug": "ins-igf2" }, { "symbol": "INS", "ensemblId": "ENSG00000254647", "biotype": "protein_coding", "start": 2159779, "end": 2161221, "strand": "-", "slug": "ins" }, { "symbol": "TH", "ensemblId": "ENSG00000180176", "biotype": "protein_coding", "start": 2163929, "end": 2171968, "strand": "-", "slug": "th" }, { "symbol": "ASCL2", "ensemblId": "ENSG00000183734", "biotype": "protein_coding", "start": 2268498, "end": 2271040, "strand": "-", "slug": "ascl2" }, { "symbol": "C11orf21", "ensemblId": "ENSG00000110665", "biotype": "protein_coding", "start": 2295628, "end": 2303180, "strand": "-", "slug": "c11orf21" }, { "symbol": "TSPAN32", "ensemblId": "ENSG00000064201", "biotype": "protein_coding", "start": 2301981, "end": 2318204, "strand": "+", "slug": "tspan32" }, { "symbol": "CD81", "ensemblId": "ENSG00000110651", "biotype": "protein_coding", "start": 2376166, "end": 2398079, "strand": "+", "slug": "cd81" }, { "symbol": "TSSC4", "ensemblId": "ENSG00000184281", "biotype": "protein_coding", "start": 2400488, "end": 2403878, "strand": "+", "slug": "tssc4" }, { "symbol": "TRPM5", "ensemblId": "ENSG00000070985", "biotype": "protein_coding", "start": 2404515, "end": 2444519, "strand": "-", "slug": "trpm5" }, { "symbol": "CDKN1C", "ensemblId": "ENSG00000129757", "biotype": "protein_coding", "start": 2883213, "end": 2885775, "strand": "-", "slug": "cdkn1c" }, { "symbol": "SLC67A1", "ensemblId": "ENSG00000110628", "biotype": "protein_coding", "start": 2899718, "end": 2925247, "strand": "+", "slug": "slc67a1" }, { "symbol": "PHLDA2", "ensemblId": "ENSG00000181649", "biotype": "protein_coding", "start": 2928273, "end": 2929593, "strand": "-", "slug": "phlda2" }, { "symbol": "NAP1L4", "ensemblId": "ENSG00000205531", "biotype": "protein_coding", "start": 2944429, "end": 2992416, "strand": "-", "slug": "nap1l4" }, { "symbol": "CARS1", "ensemblId": "ENSG00000110619", "biotype": "protein_coding", "start": 3000920, "end": 3057646, "strand": "-", "slug": "cars1" }, { "symbol": "OSBPL5", "ensemblId": "ENSG00000021762", "biotype": "protein_coding", "start": 3087107, "end": 3166739, "strand": "-", "slug": "osbpl5" }, { "symbol": "MRGPRG", "ensemblId": "ENSG00000182170", "biotype": "protein_coding", "start": 3217944, "end": 3218813, "strand": "-", "slug": "mrgprg" }, { "symbol": "MRGPRE", "ensemblId": "ENSG00000184350", "biotype": "protein_coding", "start": 3225030, "end": 3232652, "strand": "-", "slug": "mrgpre" } ], "truncated": false }, "reports": [ { "slug": "familial-atrial-fibrillation", "name": "Rodzinne migotanie przedsionków", "diseases": [ { "mondoId": "MONDO:0018054", "name": "Rodzinne migotanie przedsionków", "genes": 4, "inheritance": "autosomal-dominant", "description": "Migotanie przedsionków występujące w rodzinach, związane ze zmianami w genach takich jak KCNQ1, KCNJ2, GJA5, MYL4, NPPA i SCN5A.", "management": "Świadomość tego stanu sprzyja wcześniejszym badaniom EKG u krewnych oraz terminowemu omówieniu profilaktyki udaru.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/familial-atrial-fibrillation" }, { "slug": "long-qt-syndrome", "name": "Zespół długiego QT", "diseases": [ { "mondoId": "MONDO:0002442", "name": "Zespół długiego QT", "genes": 10, "inheritance": null, "description": "Zaburzenie repolaryzacji serca, które charakteryzuje się wydłużonym odstępem QT i ryzykiem groźnych zaburzeń rytmu komór, takich jak torsade de pointes.", "management": "Beta-blokery, wszczepienie ICD, ograniczenie aktywności fizycznej, poradnictwo genetyczne", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/long-qt-syndrome" }, { "slug": "short-qt-syndrome", "name": "Zespół krótkiego QT", "diseases": [ { "mondoId": "MONDO:0000453", "name": "Zespół krótkiego QT", "genes": 4, "inheritance": "autosomal-dominant", "description": "Choroba genetyczna układu bodźcotwórczo-przewodzącego serca, na którą składa się zespół objawów i cech: krótki odstęp QT w EKG (< 300 ms), który nie zmienia się istotnie wraz z częstością akcji serca, wysokie i spiczaste załamki T oraz prawidłowa budowa serca. Zespół krótkiego QT wydaje się dziedziczyć w sposób autosomalny dominujący, a zidentyfikowano kilka rodzin, w których występuje ta choroba.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/short-qt-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "macroglossia", "name": "Abnormally large tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/macroglossia" }, { "slug": "adrenocortical-carcinoma", "name": "Adrenocortical carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "url": "https://dantelabs.com/traits/adrenocortical-carcinoma" }, { "slug": "adrenocortical-cytomegaly", "name": "Adrenocortical cytomegaly", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/adrenocortical-cytomegaly" }, { "slug": "accelerated-skeletal-maturation", "name": "Advanced bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation" }, { "slug": "hemihypertrophy", "name": "Asymmetric overgrowth", "systems": [ "abnormality-of-limbs", "growth-abnormality" ], "url": "https://dantelabs.com/traits/hemihypertrophy" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "dandy-walker-malformation", "name": "Dandy-Walker malformation", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dandy-walker-malformation" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "enlarged-kidney", "name": "Enlarged kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/enlarged-kidney" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "diastasis-recti", "name": "Gap between large left and right abdominal muscles", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/diastasis-recti" }, { "slug": "overgrowth", "name": "General overgrowth", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/overgrowth" }, { "slug": "gonadoblastoma", "name": "Gonadoblastoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/gonadoblastoma" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "hepatoblastoma", "name": "Hepatoblastoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/hepatoblastoma" }, { "slug": "nephrocalcinosis", "name": "Increased calcium level in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/nephrocalcinosis" }, { "slug": "posterior-helix-pit", "name": "Indentation in back of outer ear", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/posterior-helix-pit" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "nephroblastoma", "name": "Nephroblastoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "url": "https://dantelabs.com/traits/nephroblastoma" }, { "slug": "omphalocele", "name": "Omphalocele", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/omphalocele" }, { "slug": "overgrowth-of-external-genitalia", "name": "Overgrowth of external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/overgrowth-of-external-genitalia" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "pancreatic-hyperplasia", "name": "Pancreatic hyperplasia", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/pancreatic-hyperplasia" }, { "slug": "paroxysmal-atrial-fibrillation", "name": "Paroxysmal atrial fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation" }, { "slug": "permanent-atrial-fibrillation", "name": "Permanent atrial fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/permanent-atrial-fibrillation" }, { "slug": "placental-mesenchymal-dysplasia", "name": "Placental mesenchymal dysplasia", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/placental-mesenchymal-dysplasia" }, { "slug": "nevus-flammeus", "name": "port-wine stain", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nevus-flammeus" }, { "slug": "postexertional-symptom-exacerbation", "name": "Postexertional symptom exacerbation", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation" }, { "slug": "profound-sensorineural-hearing-impairment", "name": "Profound sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/profound-sensorineural-hearing-impairment" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "prominent-occiput", "name": "Prominent back of the head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/prominent-occiput" }, { "slug": "prominent-metopic-ridge", "name": "Prominent metopic ridge", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/prominent-metopic-ridge" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "renal-cortical-cysts", "name": "Renal cortical cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-cortical-cysts" }, { "slug": "shortened-qt-interval", "name": "Shortened QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shortened-qt-interval" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bradycardia" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "thromboembolism", "name": "Thromboembolism", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolism" }, { "slug": "torsade-de-pointes", "name": "Torsade de pointes", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/torsade-de-pointes" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], 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